LOCUS       NM_001399               5235 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.
ACCESSION   NM_001399
VERSION     NM_001399.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5235)
  AUTHORS   Agiannitopoulos,K., Potska,K., Douka,A., Gintoni,I., Tsaousis,G.N.,
            Papadopoulou,E., Nasioulas,G. and Yapijakis,C.
  TITLE     A novel deletion of exon 4 in the Ectodysplasin A gene associated
            with X-linked hypohidrotic ectodermal dysplasia
  JOURNAL   Arch Oral Biol 150, 105689 (2023)
   PUBMED   37001412
  REMARK    GeneRIF: A novel deletion of exon 4 in the Ectodysplasin A gene
            associated with X-linked hypohidrotic ectodermal dysplasia.
REFERENCE   2  (bases 1 to 5235)
  AUTHORS   Deng,X., Guo,C., Qin,H., Zhao,L., Li,Y., Zhao,Z., Li,H., Yang,L.,
            Wang,D. and Yuan,G.
  TITLE     Association between Circulating Ectodysplasin A and Diabetic Kidney
            Disease
  JOURNAL   J Diabetes Res 2023, 5087761 (2023)
   PUBMED   37091044
  REMARK    GeneRIF: Association between Circulating Ectodysplasin A and
            Diabetic Kidney Disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5235)
  AUTHORS   Elomaa,O., Pulkkinen,K., Hannelius,U., Mikkola,M.,
            Saarialho-Kere,U. and Kere,J.
  TITLE     Ectodysplasin is released by proteolytic shedding and binds to the
            EDAR protein
  JOURNAL   Hum Mol Genet 10 (9), 953-962 (2001)
   PUBMED   11309369
REFERENCE   4  (bases 1 to 5235)
  AUTHORS   Bayes,M., Hartung,A.J., Ezer,S., Pispa,J., Thesleff,I.,
            Srivastava,A.K. and Kere,J.
  TITLE     The anhidrotic ectodermal dysplasia gene (EDA) undergoes
            alternative splicing and encodes ectodysplasin-A with deletion
            mutations in collagenous repeats
  JOURNAL   Hum Mol Genet 7 (11), 1661-1669 (1998)
   PUBMED   9736768
REFERENCE   5  (bases 1 to 5235)
  AUTHORS   Monreal,A.W., Zonana,J. and Ferguson,B.
  TITLE     Identification of a new splice form of the EDA1 gene permits
            detection of nearly all X-linked hypohidrotic ectodermal dysplasia
            mutations
  JOURNAL   Am J Hum Genet 63 (2), 380-389 (1998)
   PUBMED   9683615
  REMARK    Erratum:[Am J Hum Genet 1998 Oct;63(4):1253-5]
REFERENCE   6  (bases 1 to 5235)
  AUTHORS   Montonen,O., Ezer,S., Saarialho-Kere,U.K., Herva,R.,
            Karjalainen-Lindsberg,M.L., Kaitila,I., Schlessinger,D.,
            Srivastava,A.K., Thesleff,I. and Kere,J.
  TITLE     The gene defective in anhidrotic ectodermal dysplasia is expressed
            in the developing epithelium, neuroectoderm, thymus, and bone
  JOURNAL   J Histochem Cytochem 46 (3), 281-289 (1998)
   PUBMED   9487109
REFERENCE   7  (bases 1 to 5235)
  AUTHORS   Ferguson,B.M., Thomas,N.S., Munoz,F., Morgan,D., Clarke,A. and
            Zonana,J.
  TITLE     Scarcity of mutations detected in families with X linked
            hypohidrotic ectodermal dysplasia: diagnostic implications
  JOURNAL   J Med Genet 35 (2), 112-115 (1998)
   PUBMED   9507389
REFERENCE   8  (bases 1 to 5235)
  AUTHORS   Kere,J., Srivastava,A.K., Montonen,O., Zonana,J., Thomas,N.,
            Ferguson,B., Munoz,F., Morgan,D., Clarke,A., Baybayan,P.,
            Chen,E.Y., Ezer,S., Saarialho-Kere,U., de la Chapelle,A. and
            Schlessinger,D.
  TITLE     X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused
            by mutation in a novel transmembrane protein
  JOURNAL   Nat Genet 13 (4), 409-416 (1996)
   PUBMED   8696334
REFERENCE   9  (bases 1 to 5235)
  AUTHORS   Srivastava,A.K., Montonen,O., Saarialho-Kere,U., Chen,E.,
            Baybayan,P., Pispa,J., Limon,J., Schlessinger,D. and Kere,J.
  TITLE     Fine mapping of the EDA gene: a translocation breakpoint is
            associated with a CpG island that is transcribed
  JOURNAL   Am J Hum Genet 58 (1), 126-132 (1996)
   PUBMED   8554048
REFERENCE   10 (bases 1 to 5235)
  AUTHORS   Wright,J.T., Grange,D.K. and Fete,M.
  TITLE     Hypohidrotic Ectodermal Dysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301291
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF040628.1, BC126143.1,
            AL158141.14 and BQ008767.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_001399.4.
            
            Summary: The protein encoded by this gene is a type II membrane
            protein that can be cleaved by furin to produce a secreted form.
            The encoded protein, which belongs to the tumor necrosis factor
            family, acts as a homotrimer and may be involved in cell-cell
            signaling during the development of ectodermal organs. Defects in
            this gene are a cause of ectodermal dysplasia, anhidrotic, which is
            also known as X-linked hypohidrotic ectodermal dysplasia. Several
            transcript variants encoding many different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1, also known as
            EDA-A1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF040628.1, AF060999.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155371, SAMEA2159607
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374552.9/ ENSP00000363680.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AF040628.1         47-50
            5-1400              BC126143.1         1-1396
            1401-4562           AL158141.14        111976-115137       c
            4563-5235           BQ008767.1         16-688              c
FEATURES             Location/Qualifiers
     source          1..5235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..5235
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /note="ectodysplasin A"
                     /db_xref="GeneID:1896"
                     /db_xref="HGNC:HGNC:3157"
                     /db_xref="MIM:300451"
     exon            1..592
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     CDS             197..1372
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /note="isoform 1 is encoded by transcript variant 1;
                     oligodontia 1; X-linked anhidroitic ectodermal dysplasia
                     protein; tumor necrosis factor ligand 7C"
                     /codon_start=1
                     /product="ectodysplasin-A isoform 1"
                     /protein_id="NP_001390.1"
                     /db_xref="CCDS:CCDS14394.1"
                     /db_xref="GeneID:1896"
                     /db_xref="HGNC:HGNC:3157"
                     /db_xref="MIM:300451"
                     /translation="MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFL
                     GFFGLSLALHLLTLCCYLELRSELRRERGAESRLGGSGTPGTSGTLSSLGGLDPDSPI
                     TSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFFPDEKPYSEEESRRVRRNKRS
                     KSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPGTTVMGPPG
                     PPGPPGPQGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSR
                     ITMNPKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTR
                     SIETGKTNYNTCYTAGVCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS"
     exon            593..698
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     exon            699..722
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     exon            723..902
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     exon            903..937
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     exon            938..989
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1120
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..5235
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5205..5210
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /note="hexamer: AATAAA"
     polyA_site      5235
                     /gene="EDA"
                     /gene_synonym="ECTD1; ED1; ED1-A1; ED1-A2; EDA-A1; EDA-A2;
                     EDA1; EDA2; HED; HED1; ODT1; STHAGX1; TNLG7C; XHED; XLHED"
                     /note="major polyA site"
ORIGIN      
        1 ccctttccca cccctcggag tagagctgca catgcggctg ctccctgctc cgtcccgccc
       61 agccactgtc gcgcaggaac gggtccctgc agcccccagc cgatggcagg acagtagccg
      121 cctgtcagag gtcgtgaacg gctgaggcag acgcagcggc tcccgggcct caagagagtg
      181 ggtgtctccg gaggccatgg gctacccgga ggtggagcgc agggaactcc tgcctgcagc
      241 agcgccgcgg gagcgaggga gccagggctg cgggtgtggc ggggcccctg cccgggcggg
      301 cgaagggaac agctgcctgc tcttcctggg tttctttggc ctctcgctgg ccctccacct
      361 gctgacgttg tgctgctacc tagagttgcg ctcggagttg cggcgggaac gtggagccga
      421 gtcccgcctt ggcggctcgg gcacccctgg cacctctggc accctaagca gcctcggtgg
      481 cctcgaccct gacagcccca tcaccagtca ccttgggcag ccgtcaccta agcagcagcc
      541 attggaaccg ggagaagccg cactccactc tgactcccag gacgggcacc agatggccct
      601 attgaatttc ttcttccctg atgaaaagcc atactctgaa gaagaaagta ggcgtgttcg
      661 ccgcaataaa agaagcaaaa gcaatgaagg agcagatggc ccagttaaaa acaagaaaaa
      721 gggaaagaaa gcaggacctc ctggacccaa tggccctcca ggacccccag gacctccagg
      781 accccaggga cccccaggaa ttccagggat tcctggaatt ccaggaacaa ctgttatggg
      841 accacctggt cctccaggtc ctcctggtcc tcaaggaccc cctggcctcc agggaccttc
      901 tggtgctgct gataaagctg gaactcgaga aaaccagcca gctgtggtgc atctacaggg
      961 ccaagggtca gcaattcaag tcaagaatga tctttcaggt ggagtgctca atgactggtc
     1021 tcgcatcact atgaacccca aggtgtttaa gctacatccc cgcagcgggg agctggaggt
     1081 actggtggac ggcacctact tcatctatag tcaggtagaa gtatactaca tcaacttcac
     1141 tgactttgcc agctatgagg tggtggtgga tgagaagccc ttcctgcagt gcacacgcag
     1201 catcgagacg ggcaagacca actacaacac ttgctatacc gcaggcgtct gcctcctcaa
     1261 ggcccggcag aagatcgccg tcaagatggt gcacgctgac atctccatca acatgagcaa
     1321 gcacaccacg ttctttgggg ccatcaggct gggtgaagcc cctgcatcct agattccccc
     1381 cattttgcct ctgtccgtgc cccttccctg ggtttgggag ccaggactcc cagaacctct
     1441 aagtgctgct gtggagtgag gtgtattggt gttgcagccg cagagaaatg ccccagtgtt
     1501 atttattccc cagtgactcc agggtgacaa ggcctgcttg actttccaga atgaccttga
     1561 gttaacagga cagttgatgg agccccaggg tttacatgaa gcagaacctt ctttggttcc
     1621 atgttgactg acttatggca tgactcttca accccgaggt ccctgttgtc agatctattg
     1681 tttgttgcac taaaatgagg atccagggca gcaggccaga gaaagcaaag gtgcactcca
     1741 gactctgggg gtggacatct gaccccaagg gggctgctgc tcctctcttg ggtagggtag
     1801 tggctggggt ggagtgggaa gggagcattg cagcctaaga agaaggccag agagggaaaa
     1861 ggcaggtgct tttggcagag accataagag aaacctgcca aggagcatcc ttggcagtgg
     1921 gaatgttctt tctgctctat actgtggcct gcaggagggt tggagtgctc ttcccactcc
     1981 agctgacagc cacaccgtgg cagcttgctg ggctttggga agtttgctgt gctttggaac
     2041 aatcacaggg aatggccaca aacctgcccg cctaagaccc tgaatccgta cttgggtcac
     2101 atgactctca ttttatttac agctgtgctc cacactcaga aaattccctg gggtcacctt
     2161 ctagttgccc ccattcccag cctgactaga actcctgtct tctttctcca tggagcctac
     2221 ctctgtctga gacaggtgcc taacctggga cctgtggtca tgtgagtctg ggatattctt
     2281 tagcttacct gggcacaaac agaattttcc atttattaag cagtacaaat gtttttcatc
     2341 cattcctaat caaattctgt ctggggacga agggttggac gggatgacct ccagaagtcc
     2401 cttcaatttc tagtacctgt gactcttagc cctcaccaca gccttctaaa ttcccaaatc
     2461 ctagactgct cctgggcatt agcaaggcag agccttttta cctggcctag aaagggcaag
     2521 gggtgaggat aggacagagg gattttgttc aagtttgctg caacccaagt ggacgttagg
     2581 ccaggcctta tctgaaaggc cagcagctga tgctgtacta acccagtctt tcttcactct
     2641 ggcttcaaaa agccacagca gagcattgtc accgcaggtg ctcatgctgc tcccctaaag
     2701 ccaggctcag gagaagccag tgtctaggca ctgagcaggg atctgccccc tagttcaggt
     2761 ccaaattcac cttcccctaa accccaagct tcccaacaga tcatatggta ggaccctcga
     2821 gagccttact tcaaagtgcc tgggctcagc ctggtttctg ggtgctagat ccagcccaaa
     2881 cctgggaagg ccagccttgt acagtctgct cctcttgttc ctgaaatgtg tttccttttc
     2941 aggagatggg gaataatttc cttcaggcag ctgaaattca ccaagaacag cgggtactta
     3001 tttctcagct gtgccttccc tttctaagca accacactgc ttggcccttc aagggtcagg
     3061 gtgagacgtg atgggctagg cctccgttgt ctggttgcta atgacagcct tgcaacccaa
     3121 ggtgaggtga actccaggca tgtgtctggc cctaactcct ataaagtgcc tcggacagtc
     3181 cgcagttgta gcagaaacca acaagaacca ctccttcatg tttggaaaat aatttctctt
     3241 gtattatctc ctttgaagaa ggcaaggctg ataatatgac aaacatcatt gtttagatga
     3301 ggctcagaga ggtagcactc tcagagtgtt ttgaccagtt taagccgcag acctggagct
     3361 tcagccaggt ctgactccaa agctgttcca ttacaccaca gcattgtgtg gaatttgagg
     3421 tctagagaga accaataaaa gtggtaattg ggaactgaaa tccttgagag ttccggggag
     3481 aaacccagag atgcctgatt tcattcctcg atggtaatac ccgtcctctc ggctgccagg
     3541 ggctctgtgg caaaaagagt cagacatttc tttggaaaac agcgaacagc cttagagctc
     3601 ttgtgttcag aagaatcttc ctggcacaat gttggagcag caggcctctg ggacccacag
     3661 aacttgtggc ctttatgttc tttcacccat cctaggaacc agccaaccat catgtgtaga
     3721 gcccctactg tgggcaaagt cctcctttca ttaccctaca gacagcttac aggagccagc
     3781 ctgcttccca caactactag tgtgactcct tatctctttc caccatacct tagagacttt
     3841 gatactacca gggtctctca gggatggagg gaagacctga aagagaggac tggttctgag
     3901 gccagaaagg tgtgaggaga gaggaggaaa agtcttccta attgtgcccc taaagagcat
     3961 cctgatacca ttctattctc cagacatgga ggggatgata aaggaaatag gatctccact
     4021 ggacccttga ttcattctga accctccaaa ggaactctag agggcgaggg atgatgaggg
     4081 aagcaatagg tagctgggga gccctattgc tgctaagtca ttggcaaagt gacaaagcaa
     4141 tttactgatg agagaatgtg gaaatagatg tgcagtttgg aattatgttg gtgtgaattt
     4201 gccagaggac caatgcttgc atggagaatg ggacgaggac atttgtgggc aagcagatga
     4261 cagaggtttg aaggagaatg gcatggcagg agtctctgcc agttacttgg gcttcaacag
     4321 ccaagctggc acaaaagaca gctggcggag gctgctcggc tactggttac ctggagaagt
     4381 agtatttgcc tatttccccc ttcatccatc ctgagccaaa tttcttttgc tgaacaggaa
     4441 agagctagga accctggagg taaacaaaga ctttgatcca tgtatgagtg tatgtgttta
     4501 tgtaacttcc tgtggatgca aatagattca gagaaattta gagctaaaaa ggcccttaga
     4561 gggaatctag cccaacctac attccaccct gttacttatg tagaaactga ggcccagaga
     4621 gggaagatga cctgccccaa gtggtgagca agcaccaacc tccagactca gcagagtgag
     4681 ggggtaaagc agttcctgtc ccacatggcc atcttctttc ttccacccac aaactccagg
     4741 ctggaagtac ttggccccct tcaggagcct ggccaggcag ggagagagta gctgcagcct
     4801 tcatcagaac tcttcctcct cccaaggcat tctcccagct ctagcctctg gactggaaag
     4861 cacaagactg gcccagtgcc agcaagtcct taggctactg taatgctgcc tcaggaccca
     4921 tccctgcctg gaggctcctc taggccctgt gagcacaaag aagaaagctg atttttgtct
     4981 tttaatccat ttcaggactc tctccaggag ggctcggggt gtgtcatttc tatattcctc
     5041 cagctgggat tggggggtgg gctttgttgt gagaatggcc tggagcaggc ccaatgctgc
     5101 ttttgggggt cagcatccag tgtgagatac tgtgtatata aactatatat aatgtatata
     5161 aactgggatg taagtttgtg taaattaatg gtttattctt tgcaaataaa acgctttccc
     5221 cgtctgttct tgaaa
//
